Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities

• Published in: Human genome variation Vol. 12; no. 1; pp. 6 - 4
• Main Authors: Lee, Ah Jin, Pi, Byung Kwon, Nam, Soo Hyun, Kim, Hyun Su, Choi, Byung-Ok, Chung, Ki Wha
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 26.03.2025; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/2489/144; 692/420/2489/144; Age groups; Biomedical and Life Sciences; Biomedicine; Birth weight; Charcot-Marie-Tooth disease; Chromosome 17; Copy number; Data Report; Gene Expression; Gene Function; Gene Therapy; Genomes; Haplotypes; Human Genetics; Magnetic resonance imaging; Molecular Medicine; Neurodevelopmental disorders; Patients; Peripheral myelin protein 22; Peripheral neuropathy
• ISSN: 2054-345X; 2054-345X
• DOI: 10.1038/s41439-025-00310-6

Variable copy number variations (CNVs) in the short arm of chromosome 17 are associated with many neurodevelopmental disorders, including Charcot–Marie–Tooth disease type 1A, Potocki–Lupski syndrome and Yuan–Harel–Lupski syndrome. Here we examined CNVs in two sporadic cases of developmental abnormalities, brain impairment and peripheral neuropathy. We identified novel duplications of approximately 14.1 Mb at 17p11.2–p13.1 (containing PMP22 and RAI1 ) and 17.6 Mb at 17p11.2–p13.3 ( YWHAE , PAFAH1B and PMP22 ) in each patient. Both duplications were suggested to be produced by de novo mutations of paternal origin. This study suggests that CNVs at 17p should be examined in patients with peripheral neuropathy as well as developmental and brain abnormalities.